Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80
L D F A V P L K D V T V P E R R Q A R F E C V L T R E A N V I W S K G P D I I K S S D K F D I I A D G K K H I L V I N D S Q F D D E G V Y T A E V E G K K T S A R L F V T G I R L K F M S P L E D Q T V K E G E T A T F V C E L S H E K M H V V W F K N D A K L H T S R T V L I S S E G K T H K L E M K E V T L D D I S Q I K A Q V K E L S S T A Q L K V L
L D F A V P L K D V T V P E R R Q A R F E C V L T R E A N V I W S K G P D I I K S S D K F D I I A D G K K H I L V I N D S Q F D D E G V Y T A E V E G K K T S A R L F V T - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
14054 1 L/F 1 rs1221996833 0.3773 None gnomAD-3.1.2 6.58E-06
14054 1 L/F 1 rs1221996833 0.3773 None gnomAD-4.0.0 6.5786E-06
14054 1 L/P 1 None 0.3773 None gnomAD-4.0.0 2.40064E-06
14054 1 L/R 1 None 0.3773 None gnomAD-4.0.0 1.20032E-06
14055 2 D/A 2 None 0.3943 None gnomAD-4.0.0 1.593E-06
14055 2 D/E 2 None 0.3943 None gnomAD-4.0.0 6.84496E-07
14056 3 F/L 3 rs1474422218 0.1594 None gnomAD-2.1.1 4.03E-06
14056 3 F/L 3 rs1474422218 0.1594 None gnomAD-3.1.2 6.58E-06
14056 3 F/L 3 rs1474422218 0.1594 None gnomAD-4.0.0 2.56439E-06
14057 4 A/T 4 rs376192503 0.3439 None gnomAD-2.1.1 4.03E-06
14057 4 A/T 4 rs376192503 0.3439 None gnomAD-4.0.0 8.21326E-06
14057 4 A/V 4 rs900184988 0.3439 None gnomAD-3.1.2 6.58E-06
14057 4 A/V 4 rs900184988 0.3439 None gnomAD-4.0.0 5.07522E-06
14058 5 V/M 5 rs774014126 0.3713 None gnomAD-2.1.1 4.03E-06
14058 5 V/M 5 rs774014126 0.3713 None gnomAD-4.0.0 1.5925E-06
14059 6 P/H 7 rs1173536699 0.4438 None gnomAD-2.1.1 3.19E-05
14059 6 P/H 7 rs1173536699 0.4438 None gnomAD-3.1.2 6.58E-06
14059 6 P/H 7 rs1173536699 0.4438 None gnomAD-4.0.0 6.58241E-06
14059 6 P/L 7 rs1173536699 0.4438 None gnomAD-2.1.1 3.19E-05
14059 6 P/L 7 rs1173536699 0.4438 None gnomAD-3.1.2 6.58E-06
14059 6 P/L 7 rs1173536699 0.4438 None gnomAD-4.0.0 6.58241E-06
14059 6 P/S 7 None 0.4438 None gnomAD-4.0.0 2.05327E-06
14059 6 P/T 7 None 0.4438 None gnomAD-4.0.0 2.05327E-06
14060 7 L/P 8 None 0.1535 None gnomAD-4.0.0 1.5923E-06
14060 7 L/V 8 rs762418323 0.1535 None gnomAD-2.1.1 1.21E-05
14060 7 L/V 8 rs762418323 0.1535 None gnomAD-4.0.0 6.36914E-06
14061 8 K/M 9 None 0.7727 None gnomAD-4.0.0 1.20032E-06
14062 9 D/A 11 rs1282444173 0.4488 None gnomAD-2.1.1 4.03E-06
14062 9 D/A 11 rs1282444173 0.4488 None gnomAD-4.0.0 6.84392E-07
14062 9 D/E 11 None 0.4488 None gnomAD-4.0.0 1.59227E-06
14062 9 D/G 11 None 0.4488 None gnomAD-4.0.0 1.36878E-06
14063 10 V/A 13 rs772758022 0.1602 None gnomAD-2.1.1 4.03E-06
14063 10 V/A 13 rs772758022 0.1602 None gnomAD-4.0.0 3.18445E-06
14064 11 T/A 14 rs769719800 0.4840 None gnomAD-2.1.1 8.05E-06
14064 11 T/A 14 rs769719800 0.4840 None gnomAD-3.1.2 1.32E-05
14064 11 T/A 14 rs769719800 0.4840 None gnomAD-4.0.0 7.43842E-06
14066 13 P/L 18 None 0.3959 None gnomAD-4.0.0 1.59226E-06
14069 16 R/Q 25 rs544852574 0.6576 None gnomAD-2.1.1 1.61E-05
14069 16 R/Q 25 rs544852574 0.6576 None gnomAD-3.1.2 1.32E-05
14069 16 R/Q 25 rs544852574 0.6576 None gnomAD-4.0.0 8.67833E-06
14070 17 Q/K 26 None 0.5962 None gnomAD-4.0.0 1.59226E-06
14071 18 A/P 28 None 0.1403 None gnomAD-4.0.0 2.05319E-06
14071 18 A/T 28 rs2154227681 0.1403 None gnomAD-4.0.0 6.84396E-07
14072 19 R/L 29 rs747161377 0.3535 None gnomAD-2.1.1 4.03E-06
14072 19 R/L 29 rs747161377 0.3535 None gnomAD-4.0.0 1.02659E-05
14072 19 R/P 29 rs747161377 0.3535 None gnomAD-2.1.1 4.03E-06
14072 19 R/P 29 rs747161377 0.3535 None gnomAD-4.0.0 6.84396E-07
14072 19 R/Q 29 None 0.3535 None gnomAD-2.1.1 2.01E-05
14072 19 R/Q 29 None 0.3535 None gnomAD-4.0.0 1.30035E-05
14073 20 F/L 30 None 0.1077 None gnomAD-4.0.0 1.36878E-06
14074 21 E/K 31 rs1418024772 0.2936 None gnomAD-2.1.1 6.37E-05
14074 21 E/K 31 rs1418024772 0.2936 None gnomAD-3.1.2 4.6E-05
14074 21 E/K 31 rs1418024772 0.2936 None gnomAD-4.0.0 2.29339E-05
14074 21 E/Q 31 rs1418024772 0.2936 None gnomAD-4.0.0 6.84384E-07
14075 22 C/F 33 None 0.0960 None gnomAD-4.0.0 1.59215E-06
14077 24 L/F 35 rs758746920 0.1055 None gnomAD-2.1.1 4.03E-06
14077 24 L/F 35 rs758746920 0.1055 None gnomAD-4.0.0 1.36875E-06
14077 24 L/P 35 rs1325439536 0.1055 None gnomAD-2.1.1 4.03E-06
14077 24 L/P 35 rs1325439536 0.1055 None gnomAD-4.0.0 1.59212E-06
14077 24 L/V 35 None 0.1055 None gnomAD-4.0.0 6.84377E-07
14079 26 R/G 40 rs745926057 0.7423 None gnomAD-2.1.1 4.03E-06
14079 26 R/G 40 rs745926057 0.7423 None gnomAD-4.0.0 2.05317E-06
14079 26 R/L 40 rs746480872 0.7423 None gnomAD-4.0.0 1.36878E-06
14079 26 R/Q 40 None 0.7423 None gnomAD-2.1.1 3.22E-05
14079 26 R/Q 40 None 0.7423 None gnomAD-4.0.0 6.84389E-05
14080 27 E/K 43 rs1002712823 0.6665 None gnomAD-4.0.0 1.5922E-06
14081 28 A/T 44 rs1174918107 0.2834 None gnomAD-3.1.2 6.58E-06
14081 28 A/T 44 rs1174918107 0.2834 None gnomAD-4.0.0 2.56387E-06
14082 29 N/K 45 rs907132563 1.0095 None gnomAD-3.1.2 1.97E-05
14082 29 N/K 45 rs907132563 1.0095 None gnomAD-4.0.0 4.33938E-06
14082 29 N/S 45 None 1.0095 None gnomAD-4.0.0 3.60097E-06
14084 31 I/M 47 rs1163597313 0.6291 None gnomAD-2.1.1 8.06E-06
14084 31 I/M 47 rs1163597313 0.6291 None gnomAD-3.1.2 6.57E-06
14084 31 I/M 47 rs1163597313 0.6291 None gnomAD-4.0.0 4.33899E-06
14084 31 I/T 47 rs757636133 0.6291 None gnomAD-4.0.0 1.59216E-06
14084 31 I/V 47 None 0.6291 None gnomAD-4.0.0 1.20032E-06
14086 33 S/T 49 rs777451130 0.1698 None gnomAD-2.1.1 8.06E-06
14086 33 S/T 49 rs777451130 0.1698 None gnomAD-4.0.0 2.39534E-05
14088 35 G/A 51 None 0.4671 None gnomAD-4.0.0 6.8438E-07
14088 35 G/E 51 rs2060182595 0.4671 None gnomAD-4.0.0 6.8438E-07
14089 36 P/H 52 rs201340186 0.7166 None gnomAD-2.1.1 2.86E-05
14089 36 P/H 52 rs201340186 0.7166 None gnomAD-3.1.2 1.32E-05
14089 36 P/H 52 rs201340186 0.7166 None gnomAD-4.0.0 8.97489E-06
14091 38 I/T 56 None 0.7273 None gnomAD-4.0.0 1.5922E-06
14091 38 I/V 56 None 0.7273 None gnomAD-4.0.0 1.20033E-06
14093 40 K/N 59 rs2060181153 0.7918 None gnomAD-3.1.2 6.58E-06
14093 40 K/N 59 rs2060181153 0.7918 None gnomAD-4.0.0 6.84398E-07
14093 40 K/R 59 rs1553743733 0.7918 None gnomAD-4.0.0 1.5922E-06
14094 41 S/P 70 None 0.6602 None gnomAD-4.0.0 1.3688E-06
14095 42 S/F 73 rs762662244 0.2712 None gnomAD-2.1.1 4.03E-06
14095 42 S/F 73 rs762662244 0.2712 None gnomAD-4.0.0 1.59237E-06
14098 45 F/C 121 rs761607459 0.1976 None gnomAD-2.1.1 4.03E-06
14098 45 F/C 121 rs761607459 0.1976 None gnomAD-4.0.0 3.18461E-06
14098 45 F/L 121 rs764819276 0.1976 None gnomAD-2.1.1 4.03E-06
14098 45 F/L 121 rs764819276 0.1976 None gnomAD-3.1.2 1.97E-05
14098 45 F/L 121 rs764819276 0.1976 None gnomAD-4.0.0 4.33918E-06
14098 45 F/S 121 None 0.1976 None gnomAD-4.0.0 4.77692E-06
14099 46 D/G 122 rs1295172213 0.4708 None gnomAD-3.1.2 6.58E-06
14099 46 D/G 122 rs1295172213 0.4708 None gnomAD-4.0.0 3.7194E-06
14099 46 D/H 122 None 0.4708 None gnomAD-4.0.0 1.20032E-06
14099 46 D/N 122 rs1041549928 0.4708 None gnomAD-3.1.2 1.32E-05
14099 46 D/N 122 rs1041549928 0.4708 None gnomAD-4.0.0 4.06037E-06
14100 47 I/V 123 rs1228652507 0.2919 None gnomAD-2.1.1 4.03E-06
14100 47 I/V 123 rs1228652507 0.2919 None gnomAD-4.0.0 1.59232E-06
14101 48 I/T 125 rs776663967 0.4033 None gnomAD-2.1.1 8.06E-06
14101 48 I/T 125 rs776663967 0.4033 None gnomAD-4.0.0 2.40064E-06
14102 49 A/T 127 rs72650080 0.5237 None gnomAD-2.1.1 1.43E-05
14102 49 A/T 127 rs72650080 0.5237 None gnomAD-3.1.2 1.97E-05
14102 49 A/T 127 rs72650080 0.5237 None gnomAD-4.0.0 1.73582E-05
14103 50 D/N 130 None 0.6920 None gnomAD-4.0.0 1.59233E-06
14103 50 D/V 130 rs775487599 0.6920 None gnomAD-2.1.1 8.06E-06
14103 50 D/V 130 rs775487599 0.6920 None gnomAD-4.0.0 3.18463E-06
14105 52 K/N 134 None 0.2995 None gnomAD-4.0.0 6.84438E-07
14106 53 K/R 135 None 0.2826 None gnomAD-4.0.0 1.59243E-06
14108 55 I/F 137 rs772414514 0.1166 None gnomAD-2.1.1 1.21E-05
14108 55 I/F 137 rs772414514 0.1166 None gnomAD-4.0.0 6.15989E-06
14108 55 I/N 137 None 0.1166 None gnomAD-4.0.0 6.84434E-07
14110 57 V/A 139 rs34706299 0.1891 None gnomAD-2.1.1 3.40026E-04
14110 57 V/A 139 rs34706299 0.1891 None gnomAD-3.1.2 3.02476E-04
14110 57 V/A 139 rs34706299 0.1891 None 1000 genomes 3.99361E-04
14110 57 V/A 139 rs34706299 0.1891 None gnomAD-4.0.0 2.67782E-04
14110 57 V/I 139 rs1230881799 0.1891 None gnomAD-4.0.0 2.73773E-06
14112 59 N/I 141 rs749717066 0.3541 None gnomAD-2.1.1 4.03E-06
14112 59 N/S 141 rs749717066 0.3541 None gnomAD-2.1.1 4.03E-06
14112 59 N/S 141 rs749717066 0.3541 None gnomAD-4.0.0 6.00162E-06
14113 60 D/E 143 None 0.4003 None gnomAD-4.0.0 1.59261E-06
14115 62 Q/E 145 rs2060169705 0.4435 None gnomAD-4.0.0 1.5927E-06
14116 63 F/L 146 None 0.2380 None gnomAD-4.0.0 1.59277E-06
14117 64 D/V 148 rs2060168886 0.8978 None gnomAD-4.0.0 1.23209E-05
14118 65 D/E 149 None 0.1835 None gnomAD-4.0.0 1.36899E-06
14118 65 D/V 149 None 0.1835 None gnomAD-4.0.0 1.20033E-06
14119 66 E/D 151 None 0.3199 None gnomAD-4.0.0 1.59286E-06
14120 67 G/R 152 None 0.2008 None gnomAD-4.0.0 6.8451E-07
14121 68 V/A 153 None 0.3578 None gnomAD-4.0.0 1.20032E-06
14121 68 V/F 153 None 0.3578 None gnomAD-4.0.0 6.3716E-06
14121 68 V/G 153 None 0.3578 None gnomAD-4.0.0 1.20032E-06
14122 69 Y/C 154 rs756627487 0.1026 None gnomAD-2.1.1 4.04E-06
14122 69 Y/C 154 rs756627487 0.1026 None gnomAD-4.0.0 6.16064E-06
14123 70 T/S 155 None 0.1950 None gnomAD-4.0.0 1.5931E-06
14124 71 A/S 156 rs753046446 0.0738 None gnomAD-2.1.1 4.05E-06
14124 71 A/S 156 rs753046446 0.0738 None gnomAD-4.0.0 3.19122E-06
14126 73 V/E 158 rs1489018462 0.1374 None gnomAD-3.1.2 1.32E-05
14126 73 V/E 158 rs1489018462 0.1374 None gnomAD-4.0.0 1.2414E-05
14126 73 V/M 158 None 0.1374 None gnomAD-4.0.0 1.20032E-06
14127 74 E/D 159 rs750100548 0.7604 None gnomAD-2.1.1 4.07E-06
14127 74 E/D 159 rs750100548 0.7604 None gnomAD-4.0.0 1.37107E-06
14127 74 E/Q 159 None 0.7604 None gnomAD-4.0.0 1.59794E-06
14128 75 G/A 161 rs370793851 0.5191 None gnomAD-2.1.1 5.3E-05
14128 75 G/A 161 rs370793851 0.5191 None gnomAD-3.1.2 3.95E-05
14128 75 G/A 161 rs370793851 0.5191 None gnomAD-4.0.0 8.81726E-05
14129 76 K/E 162 None 0.3504 None gnomAD-4.0.0 1.60068E-06
14129 76 K/R 162 None 0.3504 None gnomAD-4.0.0 6.85945E-07
14129 76 K/T 162 rs1050750556 0.3504 None gnomAD-4.0.0 5.48756E-06
14130 77 K/N 163 None 0.6673 None gnomAD-4.0.0 2.40078E-06
14131 78 T/N 170 None 0.1199 None gnomAD-4.0.0 6.86343E-07
14134 81 R/P 173 rs764083952 0.4183 None gnomAD-2.1.1 8.3E-06
14134 81 R/P 173 rs764083952 0.4183 None gnomAD-4.0.0 2.06359E-06
14134 81 R/Q 173 rs764083952 0.4183 None gnomAD-2.1.1 2.94E-05
14134 81 R/Q 173 rs764083952 0.4183 None gnomAD-3.1.2 1.32E-05
14134 81 R/Q 173 rs764083952 0.4183 None gnomAD-4.0.0 1.86824E-05
14134 81 R/W 173 rs753341792 0.4183 None gnomAD-2.1.1 4.12E-05
14134 81 R/W 173 rs753341792 0.4183 None gnomAD-3.1.2 4.61E-05
14134 81 R/W 173 rs753341792 0.4183 None gnomAD-4.0.0 2.67458E-05
14136 83 F/S 175 None 0.3499 None gnomAD-4.0.0 1.61712E-06
14137 84 V/A 176 None 0.1134 None gnomAD-4.0.0 1.61779E-06
14137 84 V/I 176 rs1168812566 0.1134 None gnomAD-3.1.2 6.58E-06
14137 84 V/I 176 rs1168812566 0.1134 None gnomAD-4.0.0 1.87117E-06
14138 85 T/A 178 None 0.3978 None gnomAD-4.0.0 6.89099E-07
14138 85 T/P 178 rs376500376 0.3978 None gnomAD-2.1.1 1.48E-05
14138 85 T/P 178 rs376500376 0.3978 None gnomAD-3.1.2 3.94E-05
14138 85 T/P 178 rs376500376 0.3978 None gnomAD-4.0.0 5.61355E-06